Canonical Allele Identifier: CA68180438
Gene: AGXT HGNC NCBI

Linked Data

dbSNP Id: rs939379613
MyVariant Identifiers: chr2:g.241816446A>C (hg19) chr2:g.240877029A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240877029A>C , CM000664.2:g.240877029A>C GRCh38
NC_000002.11:g.241816446A>C , CM000664.1:g.241816446A>C GRCh37
NC_000002.10:g.241465119A>C NCBI36
NG_008005.1:g.13285A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000307503.4:c.847-508A>C MANE Select ENSP00000302620.3:n.847-508A>C
ENST00000307503.3:c.847-508A>C ENSP00000302620.3:n.847-508A>C
ENST00000470255.1:n.117A>C
NM_000030.2:c.847-508A>C NP_000021.1:n.847-508A>C
NM_000030.3:c.847-508A>C MANE Select NP_000021.1:n.847-508A>C
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